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Assessment of Cardiac Involvement in Fabry Disease (FD) with Native T1 Mapping
Fritz Christian Roller1, Sven Fuest2, Marco Meyer2
1Diagnostic and Interventional Radiology, Justus-Liebig-University, Giessen, Germany.
Insights
Native T1 mapping reveals significantly decreased cardiac T1 values in Fabry disease (FD) patients. This technique shows potential for early detection of cardiac involvement before structural changes appear.
Area of Science:
- Cardiovascular Imaging
- Genetic Metabolic Disorders
- Radiology
Background:
- Fabry disease (FD) is an X-linked disorder causing multi-organ damage, with cardiac disease being a primary cause of mortality.
- Early identification of FD-specific cardiac pathologies is crucial for maximizing therapeutic efficacy.
- Quantitative cardiac T1 mapping is explored as a potential disease-specific imaging biomarker.
Purpose of the Study:
- To evaluate the utility of quantitative cardiac T1 mapping in detecting early cardiac involvement in Fabry disease.
- To assess native T1 times in the septal myocardium of FD patients compared to controls.
Main Methods:
- 16 FD patients and 16 controls underwent 1.5 Tesla MRI with native T1 mapping using a MOLLI sequence.
- Native T1 times were measured in the septal myocardium at the midventricular short-axis.
- Functional parameters, left ventricular morphology, late gadolinium enhancement (LGE), cTnI, and Lyso-Gb3 levels were also assessed.
Main Results:
- FD patients exhibited significantly lower median native septal T1 times (889.0 ms) compared to controls (950.6 ms; p < 0.003).
- Lower native T1 values correlated with positive cTnI and Lyso-Gb3 levels, and 56.25% of FD patients showed abnormal T1 values.
- Native septal T1 demonstrated a negative correlation with Lyso-Gb3 levels (r = -0.582; p = 0.018).
Conclusions:
- Pathologic native T1 times in the heart reflect tissue-level cardiac involvement in Fabry disease.
- Native T1 mapping may serve as a valuable imaging biomarker for identifying early cardiac involvement in FD, preceding morphological changes.
- This technique holds potential for early disease detection and monitoring therapeutic response.
Purpose:
Fabry disease (FD) is an X-linked multi-organ disorder of lysosomal metabolism with cardiac disease being the leading cause of death. Identifying early FD-specific pathologies is important in the context of maximum therapeutic benefit in these stages. Therefore, the aim of this study was to investigate the value of quantitative cardiac T1 mapping as a potential disease-specific surrogate.
Methods:
16 consecutive FD patients (9 female, 7 male; median age: 54 years, IQR 17) and 16 control patients (9 female, 7 male; median age: 52 years, IQR 20) were investigated at 1.5 Tesla. Native T1 mapping was performed using a modified look locker inversion recovery sequence (MOLLI) and native T1 times were measured within the septal myocardium at the midventricular short-axis section. Also functional parameters, left ventricular morphology, presence of late-gadolinium enhancement, cTnI- and Lyso-Gb3-Levels were evaluated.
Results:
The median native septal T1 time for FD was 889.0 ms and 950.6 ms for controls (p < 0.003). LGE and positive cTnI values (0.26 ± 0.21) were present in 5 FD patients (31.25 %), and left ventricular hypertrophy (LVH) was present in 4 FD patients (25.00 %). The 4 cTnI and 8 Lyso-Gb3 positive FD patients had significantly lower native T1 values (p < 0.05, respectively p < 0.01). Assuming a T1 cut-off value of 900 ms for the identification of increased cardiac lipid deposit, 9 patients with FD (56.25 %) had pathologic values (4 patients cTnI and 8 patients Lyso-Gb3 positive). Moreover, native septal T1 showed a good negative correlation to Lyso-Gb3 (r = - 0.582; p = 0.018).
Conclusion:
A pathologic cardiac native T1 time obviously reflects cardiac involvement in the scope of FD at tissue level. In the future native T1 mapping as an imaging biomarker might allow identification of early stages of cardiac involvement in FD before morphological changes are obvious.
Key Points:
· Native T1 values are significantly decreased in Fabry disease.. · Native T1 shows promising correlation to cardiac and Fabry-specific biomarkers.. · Native T1 mapping might have great potential for early disease detection and therapy monitoring..
Citation Format:
· Roller FC, Fuest S, Meyer M et al. Assessment of Cardiac Involvement in Fabry Disease (FD) with Native T1 Mapping. Fortschr Röntgenstr 2019; 191: 932 - 939.
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